Fas gene promoter polymorphisms in primary Sjögren’s syndrome
Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promo...
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| Veröffentlicht in: | Annals of the rheumatic diseases 2004-01, Vol.63 (1), p.98-101 |
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| creator | Mullighan, C G Heatley, S Lester, S Rischmueller, M Gordon, T P Bardy, P G |
| description | Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCRSSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS. |
| doi_str_mv | 10.1136/ard.2003.006056 |
| format | Article |
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Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCRSSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.</description><identifier>ISSN: 0003-4967</identifier><identifier>EISSN: 1468-2060</identifier><identifier>DOI: 10.1136/ard.2003.006056</identifier><identifier>PMID: 14672901</identifier><identifier>CODEN: ARDIAO</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd and European League Against Rheumatism</publisher><subject>Antibodies, Antinuclear - blood ; Apoptosis ; CIE ; Concise Report ; counterimmunoelectrophoresis ; Disease ; ELISA ; enzyme linked immunosorbent assay ; Exocrine glands ; Fas ; fas Receptor - genetics ; Gangrene ; Gene Frequency ; Genes ; Genotype ; Haplotypes ; Humans ; Lupus ; Pathogenesis ; Polymorphism ; Polymorphism, Genetic ; primary Sjögren’s syndrome ; Promoter Regions, Genetic - genetics ; pSS ; Rodents ; Sjogren's Syndrome - genetics ; Sjogren's Syndrome - immunology ; Sjögren’s syndrome ; Studies ; Thermal cycling ; Tumor necrosis factor-TNF</subject><ispartof>Annals of the rheumatic diseases, 2004-01, Vol.63 (1), p.98-101</ispartof><rights>Copyright 2004 by Annals of the Rheumatic Diseases</rights><rights>COPYRIGHT 2004 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2004 Copyright 2004 by Annals of the Rheumatic Diseases</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b567t-af873395443fe698d1174e6f1f4f49e91976a26e6efbe1235128205d9b1d29ac3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1754724/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1754724/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14672901$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mullighan, C G</creatorcontrib><creatorcontrib>Heatley, S</creatorcontrib><creatorcontrib>Lester, S</creatorcontrib><creatorcontrib>Rischmueller, M</creatorcontrib><creatorcontrib>Gordon, T P</creatorcontrib><creatorcontrib>Bardy, P G</creatorcontrib><title>Fas gene promoter polymorphisms in primary Sjögren’s syndrome</title><title>Annals of the rheumatic diseases</title><addtitle>Ann Rheum Dis</addtitle><description>Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCRSSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.</description><subject>Antibodies, Antinuclear - blood</subject><subject>Apoptosis</subject><subject>CIE</subject><subject>Concise Report</subject><subject>counterimmunoelectrophoresis</subject><subject>Disease</subject><subject>ELISA</subject><subject>enzyme linked immunosorbent assay</subject><subject>Exocrine glands</subject><subject>Fas</subject><subject>fas Receptor - genetics</subject><subject>Gangrene</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Lupus</subject><subject>Pathogenesis</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>primary Sjögren’s syndrome</subject><subject>Promoter Regions, Genetic - genetics</subject><subject>pSS</subject><subject>Rodents</subject><subject>Sjogren's Syndrome - genetics</subject><subject>Sjogren's Syndrome - immunology</subject><subject>Sjögren’s syndrome</subject><subject>Studies</subject><subject>Thermal cycling</subject><subject>Tumor necrosis factor-TNF</subject><issn>0003-4967</issn><issn>1468-2060</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkctu1DAUhi1ERYfCmh2KhMQCKVPb8SXZIMqI0ooKFlzEznKS46mHxB7sTNXZ8Rq8CC_Am_RJ6iijFlAl5IVln-9c_vMj9ITgOSGFONShnVOMiznGAnNxD80IE2VO0-s-muEUyVkl5D56GOMqPXFJygdoP0GSVpjM0KtjHbMlOMjWwfd-gJCtfbftfVif29jHzLoUsb0O2-zj6vevZQB39eNnzOLWtSkDHqE9o7sIj3f3Afp8_ObT4iQ_-_D2dHF0ltdcyCHXppRFUXHGCgOiKltCJANhiGGGVVCRSgpNBQgwNRBacEJLinlb1aSllW6KA_Ryqrve1D20Dbgh6E7tZlNeW_V3xNlztfQXikjOJGWpwPNdgeC_byAOqrexga7TDvwmKkm4SCxN4LN_wJXfBJfEpVpSlowLMVL5RC11B8o641PXZtxkau4dGJu-j8goJSkRiZ_fwafTQm-bOxMOp4Qm-BgDmButBKvRfJXMV6P5ajI_ZTz9c0W3_M7t25ltHODyJq7DNyVkIbl6_2WhBD95x7-Wr9Wo8cXE1_3qv92vAWcyxzs</recordid><startdate>200401</startdate><enddate>200401</enddate><creator>Mullighan, C G</creator><creator>Heatley, S</creator><creator>Lester, S</creator><creator>Rischmueller, M</creator><creator>Gordon, T P</creator><creator>Bardy, P G</creator><general>BMJ Publishing Group Ltd and European League Against Rheumatism</general><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9-</scope><scope>K9.</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>200401</creationdate><title>Fas gene promoter polymorphisms in primary Sjögren’s syndrome</title><author>Mullighan, C G ; Heatley, S ; Lester, S ; Rischmueller, M ; Gordon, T P ; Bardy, P G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b567t-af873395443fe698d1174e6f1f4f49e91976a26e6efbe1235128205d9b1d29ac3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Antibodies, Antinuclear - blood</topic><topic>Apoptosis</topic><topic>CIE</topic><topic>Concise Report</topic><topic>counterimmunoelectrophoresis</topic><topic>Disease</topic><topic>ELISA</topic><topic>enzyme linked immunosorbent assay</topic><topic>Exocrine glands</topic><topic>Fas</topic><topic>fas Receptor - genetics</topic><topic>Gangrene</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Lupus</topic><topic>Pathogenesis</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>primary Sjögren’s syndrome</topic><topic>Promoter Regions, Genetic - genetics</topic><topic>pSS</topic><topic>Rodents</topic><topic>Sjogren's Syndrome - genetics</topic><topic>Sjogren's Syndrome - immunology</topic><topic>Sjögren’s syndrome</topic><topic>Studies</topic><topic>Thermal cycling</topic><topic>Tumor necrosis factor-TNF</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mullighan, C G</creatorcontrib><creatorcontrib>Heatley, S</creatorcontrib><creatorcontrib>Lester, S</creatorcontrib><creatorcontrib>Rischmueller, M</creatorcontrib><creatorcontrib>Gordon, T P</creatorcontrib><creatorcontrib>Bardy, P G</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Annals of the rheumatic diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mullighan, C G</au><au>Heatley, S</au><au>Lester, S</au><au>Rischmueller, M</au><au>Gordon, T P</au><au>Bardy, P G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fas gene promoter polymorphisms in primary Sjögren’s syndrome</atitle><jtitle>Annals of the rheumatic diseases</jtitle><addtitle>Ann Rheum Dis</addtitle><date>2004-01</date><risdate>2004</risdate><volume>63</volume><issue>1</issue><spage>98</spage><epage>101</epage><pages>98-101</pages><issn>0003-4967</issn><eissn>1468-2060</eissn><coden>ARDIAO</coden><abstract>Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren’s syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCRSSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd and European League Against Rheumatism</pub><pmid>14672901</pmid><doi>10.1136/ard.2003.006056</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Antibodies, Antinuclear - blood Apoptosis CIE Concise Report counterimmunoelectrophoresis Disease ELISA enzyme linked immunosorbent assay Exocrine glands Fas fas Receptor - genetics Gangrene Gene Frequency Genes Genotype Haplotypes Humans Lupus Pathogenesis Polymorphism Polymorphism, Genetic primary Sjögren’s syndrome Promoter Regions, Genetic - genetics pSS Rodents Sjogren's Syndrome - genetics Sjogren's Syndrome - immunology Sjögren’s syndrome Studies Thermal cycling Tumor necrosis factor-TNF |
| title | Fas gene promoter polymorphisms in primary Sjögren’s syndrome |
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